SERPING1

serpin family G member 1

Summary

This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]

Known Variants452 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2135304804	11:57,365,055	C/T	—	pathogenic
rs1291031675	11:57,365,057	A/G	—	pathogenic
rs886048397	11:57,365,113	C/A	—	uncertain significance
rs1050320465	11:57,365,114	C/T	—	likely benign
rs578018379	11:57,365,118	C/G	—	uncertain significance
rs866115469	11:57,365,119	C/G	—	uncertain significance
rs1590820881	11:57,365,122	A/C	—	likely benign
rs1190911080	11:57,365,124	C/G	—	uncertain significance
rs886048398	11:57,365,162	T/G	—	uncertain significance
rs761350979	11:57,365,182	A/T	—	uncertain significance
rs112290300	11:57,365,194	G/C	—	benign
rs2495418861	11:57,365,225	G/A	—	likely benign
rs1945307391	11:57,365,567	G/T	—	pathogenic
rs2495420847	11:57,365,719	C/G	—	likely pathogenic
rs2495420852	11:57,365,721	G/A	—	pathogenic
rs28362944	11:57,365,723	T/C	splice region variant	benign
rs1565168898	11:57,365,744	A/C	—	pathogenic
rs2495420943	11:57,365,745	T/G	—	pathogenic
rs185342631	11:57,365,748	C/T	—	conflicting classifications of pathogenicity
rs2495420964	11:57,365,749	C/A	—	likely benign
rs1350080094	11:57,365,756	C/T	—	likely benign
rs201455616	11:57,365,768	A/C	—	benign
rs1393145109	11:57,365,770	C/A	—	likely benign
rs1945310592	11:57,365,774	C/T	—	likely benign
rs2495421098	11:57,365,778	T/G	—	likely pathogenic
rs199473715	11:57,365,794	G/C	—	likely benign
rs1470120365	11:57,365,795	G/A	—	pathogenic
rs2495421197	11:57,365,797	A/G	—	pathogenic
rs1427729690	11:57,365,798	T/C	—	uncertain significance
rs1554994665	11:57,365,799	G/T	—	likely pathogenic
rs2495421238	11:57,365,807	T/G	—	likely benign
rs1403181935	11:57,365,813	G/A	—	likely benign
rs28362945	11:57,365,895	A/G	—	benign
rs1005511	11:57,366,656	C/T	—	benign
rs1005510	11:57,367,222	C/T	intron variant	benign
rs564199415	11:57,367,336	G/A	—	benign
rs2495424933	11:57,367,343	G/C	—	likely benign
rs1026657804	11:57,367,347	C/T	—	conflicting classifications of pathogenicity
rs2495424954	11:57,367,350	A/G	—	pathogenic
rs886041353	11:57,367,351	G/A	—	pathogenic
rs1565169419	11:57,367,355	A/T	—	pathogenic
rs750953819	11:57,367,359	C/G	—	uncertain significance
rs952441370	11:57,367,365	C/T	—	uncertain significance
rs751621261	11:57,367,386	C/G	—	uncertain significance
rs2495425114	11:57,367,394	C/G	—	uncertain significance
rs781444611	11:57,367,400	C/A	—	uncertain significance
rs11229062	11:57,367,417	C/G	—	conflicting classifications of pathogenicity
rs1945328184	11:57,367,421	G/T	—	uncertain significance
rs138315643	11:57,367,423	C/T	—	likely benign
rs778625408	11:57,367,424	G/T	—	pathogenic
rs149573972	11:57,367,429	G/A	—	likely benign
rs143231506	11:57,367,433	G/T	—	likely benign
rs1945328472	11:57,367,434	T/C	—	uncertain significance
rs886048399	11:57,367,435	C/T	—	uncertain significance
rs775187777	11:57,367,436	G/A	—	uncertain significance
rs2495425269	11:57,367,439	A/G	—	uncertain significance
rs11546661	11:57,367,442	A/G	—	benign
rs188542060	11:57,367,453	C/T	—	likely benign
rs766862937	11:57,367,455	A/G	—	uncertain significance
rs1945328931	11:57,367,465	C/T	—	likely benign
rs1010623673	11:57,367,466	G/A	—	uncertain significance
rs11546660	11:57,367,467	T/C	missense variant	benign
rs752993036	11:57,367,469	G/A	—	likely benign
rs191743641	11:57,367,471	A/G	—	likely benign
rs757332518	11:57,367,488	C/G	—	uncertain significance
rs1380783158	11:57,367,490	A/G	—	uncertain significance
rs778966956	11:57,367,491	G/C	—	likely benign
rs771637963	11:57,367,497	C/T	—	uncertain significance
rs774845024	11:57,367,498	G/A	—	likely benign
rs376218168	11:57,367,507	C/T	—	likely benign
rs1484668063	11:57,367,510	A/T	—	likely benign
rs143059012	11:57,367,516	C/G	—	likely benign
rs2135308212	11:57,367,521	C/A	—	pathogenic
rs182779591	11:57,367,527	C/T	—	conflicting classifications of pathogenicity
rs2135308228	11:57,367,529	A/T	—	pathogenic
rs774944411	11:57,367,539	C/G	—	uncertain significance
rs147409450	11:57,367,544	A/T	—	conflicting classifications of pathogenicity
rs778803626	11:57,367,579	G/A	—	likely benign
rs750408264	11:57,367,583	A/C	—	likely benign
rs139702024	11:57,367,584	C/T	—	likely benign
rs886048400	11:57,367,585	C/A	—	conflicting classifications of pathogenicity
rs1945331471	11:57,367,593	C/T	—	uncertain significance
rs2135308477	11:57,367,603	A/G	—	likely benign
rs372078395	11:57,367,606	C/T	—	likely benign
rs2495426028	11:57,367,609	C/G	—	likely benign
rs780799832	11:57,367,622	C/T	—	pathogenic
rs1371887844	11:57,367,630	A/G	—	conflicting classifications of pathogenicity
rs2135308550	11:57,367,646	C/T	—	pathogenic
rs1035864750	11:57,367,648	G/T	—	uncertain significance
rs200534715	11:57,367,652	A/G	—	benign
rs2495426239	11:57,367,656	C/G	—	uncertain significance
rs1465637711	11:57,367,669	C/G	—	uncertain significance
rs2495426358	11:57,367,690	C/G	—	uncertain significance
rs373895356	11:57,367,692	C/G	—	uncertain significance
rs764462746	11:57,367,696	C/T	—	likely benign
rs2135308651	11:57,367,700	G/T	—	pathogenic
rs368340146	11:57,367,702	G/A	—	likely benign
rs762090349	11:57,367,704	G/A	—	uncertain significance
rs1046267215	11:57,367,717	G/A	—	likely benign
rs2495426473	11:57,367,719	C/G	—	uncertain significance

Showing 100 of 452 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.